Variant DetailsVariant: esv3573228 | Internal ID | 18701426 | | Landmark | | | Location Information | | | Cytoband | 9p13.2 | | Allele length | | Assembly | Allele length | | hg38 | 2610 | | hg19 | 2610 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2150e212 | | Supporting Variants | essv9790761, essv9790835, essv9790779, essv9790816, essv9790824, essv9790786, essv9790784, essv9790827, essv9790823, essv9790808, essv9790797, essv9790813, essv9790766, essv9790754, essv9790842, essv9790751, essv9790741, essv9790796, essv9790749, essv9790734, essv9790758, essv9790777, essv9790831, essv9790774, essv9790762, essv9790825, essv9790814, essv9790745, essv9790810, essv9790783, essv9790841, essv9790821, essv9790791, essv9790785, essv9790795, essv9790819, essv9790746, essv9790765, essv9790782, essv9790788, essv9790730, essv9790807, essv9790753, essv9790735, essv9790794, essv9790839, essv9790737, essv9790763, essv9790815, essv9790770, essv9790760, essv9790829, essv9790732, essv9790772, essv9790812, essv9790776, essv9790750, essv9790731, essv9790739, essv9790736, essv9790818, essv9790787, essv9790780, essv9790837, essv9790834, essv9790809, essv9790792, essv9790748, essv9790804, essv9790832, essv9790740, essv9790838, essv9790830, essv9790752, essv9790799, essv9790828, essv9790742, essv9790757, essv9790806, essv9790801, essv9790771, essv9790805, essv9790769, essv9790820, essv9790759, essv9790747, essv9790802, essv9790764, essv9790836, essv9790793, essv9790826, essv9790728, essv9790798, essv9790803, essv9790781, essv9790743, essv9790729, essv9790790, essv9790768, essv9790738, essv9790773, essv9790775, essv9790840, essv9790817 | | Samples | 400911GA, 400927BD, 400308SP, 401110GJ, 400439IM, 401852SK, 400739SS, 400105BB, 401400NP, 401146US, 401819BS, 400572PJ, 401769CR, 400468OB, 401503MJ, 400622SJ, 401415CB, 400230TB, 401742KB, 401299ST, 400506GN, 401442WR, 401603HH, 401674DD, 401368WR, 400545EW, 401536BD, 400558BL, 401253MC, 401551MB, 401390DG, 401792KR, 401860TJ, 400675HC, 401687LR, 400631SJ, 401869BG, 401401BA, 400526DR, 401364NA, 400348DK, 401831TW, 400032RC, 401198TI, 400478WE, 401746WW, 401801LA, 402029KJ, 400582WS, 400502GS, 400107MJ, 401646MC, 401238QR, 401013GJ, 401732HW, 401175FA, 400533BB, 400870KC, 400791GC, 400702PA, 400783MJ, 401125LM, 401026AM, 400122PL, 401278DM, 400967PK, 401348RB, 401586RS, 400265LK, 401942MP, 400844GP, 400705KK, 400869BK, 401874DJ, 401259LS, 401176BD, 401359HF, 400818BL, 400201PK, 401361GG, 401203MP, 400732MA, 400103BN, 400881GS, 401844ZD, 402051AF, 401552BK, 401894PD, 400312CR, 401567BD, 401358VP, 400785AK, 401177SL, 400833BB, 400261RN, 401284NA, 400266BA, 401969DR, 401882CR, 401576WC, 401254AE, 401993HM, 400782IE, 401482CB | | Known Genes | SHB | | Method | SNP array | | Analysis | We used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection. | | Platform | Affymetrix CytoScan HD 2.7M array | | Comments | | | Reference | Uddin_et_al_2014 | | Pubmed ID | 25503493 | | Accession Number(s) | esv3573228
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 104 | | Observed Complex | 0 | | Frequency | n/a |
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